A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5511767



Internal ID288337
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:64965189..64974282hg38UCSC Ensembl
chr14:65431907..65441000hg19UCSC Ensembl
Cytoband14q23.3
Allele length
AssemblyAllele length
hg389094
hg199094
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17696754
Samples
Known GenesCHURC1-FNTB, RAB15
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5511767
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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